Supported HGVS Syntax
| Type | Prefix | Example |
|---|---|---|
| Genomic | g. | NC_000001.11:g.12345A>G |
| Coding DNA | c. | NM_000088.3:c.459A>G |
| Non-coding | n. | NR_000001.1:n.100A>G |
| RNA | r. | NM_000088.3:r.459a>g |
| Protein | p. | NP_000079.2:p.Val600Glu |
| Mitochondrial | m. | NC_012920.1:m.3243A>G |
Edit Types
- Substitution:
A>G,Val600Glu - Deletion:
del,100_200del - Insertion:
100_101insATG - Deletion-Insertion:
100_102delinsATG - Duplication:
100_102dup - Inversion:
100_200inv - Repeat:
100CAG[20]